Freeman Sheldon Syndrome

Common Name(s)

Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically).

Advocacy and Support Organizations

Condition Specific Organizations

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

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Advocacy and Support Organizations

Condition Specific Organizations

Following organizations serve the condition "Freeman Sheldon Syndrome" for support, advocacy or research.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

General Support Organizations

Recommended Apps

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

Finding the right clinical trial for Freeman Sheldon Syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Freeman Sheldon Syndrome" returned 13 free, full-text research articles on human participants.
First 3 results:

The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after birth. Freeman-Sheldon syndrome (FSS) is a disease associated with missense mutations in the motor domain of this myosin. It is the most severe form of distal arthrogryposis, leading ...

Distal arthrogryposis is the most common known heritable cause of congenital contractures (e.g. clubfoot) and results from mutations in genes that encode proteins of the contractile complex of skeletal muscle cells. Mutations are most frequently found in MYH3 and are predicted to ...

Children born with the rare congenital condition Freeman-Sheldon syndrome (FSS) have a characteristic facial appearance: microstomia, a long philtrum, 'H-shaped' chin abnormality and 'pinched lips' in addition to extra-facial features such as kyphoscoliosis and hand deformities. Such ...

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Freeman Sheldon Syndrome" returned 1 free, full-text review articles on human participants.
First 3 results:

The Freeman-Sheldon syndrome (FSS) is a rare congenital syndrome, characterized with myopathy and dysplasia. The musculoskeletal and soft-tissue manifestations often require orthopedic and plastic surgery. We reported a case of 8-year-old girl with FSS operated on for scoliosis.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Freeman Sheldon Syndrome" (open studies are recruiting volunteers) and 3 "Freeman Sheldon Syndrome" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Freeman Sheldon Syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.